Canonical Allele Identifier: CA121059279
Gene: CRHBP HGNC NCBI

Linked Data

dbSNP Id: rs888307422
gnomAD v3: 5-76968489-A-C
gnomAD v4: 5-76968489-A-C
MyVariant Identifiers: chr5:g.76968489A>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.76968489A>C , CM000667.2:g.76968489A>C GRCh38
NC_000005.9:g.76264314A>C , CM000667.1:g.76264314A>C GRCh37
NC_000005.8:g.76300070A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000274368.9:c.812-239A>C MANE Select ENSP00000274368.4:n.812-239A>C
ENST00000274368.8:c.812-239A>C ENSP00000274368.4:n.812-239A>C
ENST00000503763.1:n.227-239A>C
ENST00000514258.1:n.311+5029A>C
NM_001882.3:c.812-239A>C NP_001873.2:n.812-239A>C
XR_948235.1:n.1111+5029A>C
XR_948235.3:n.1091+5029A>C
NM_001882.4:c.812-239A>C MANE Select NP_001873.2:n.812-239A>C